Canonical Allele Identifier: CA2789780108
Gene: HTRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461565_122461566del , CM000672.2:g.122461565_122461566del GRCh38
NC_000010.10:g.124221081_124221082del , CM000672.1:g.124221081_124221082del GRCh37
NC_000010.9:g.124211071_124211072del NCBI36
NG_011554.1:g.5041_5042del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.-88_-87del MANE Select ENSP00000357980.3:n.-88_-87del
ENST00000648167.1:c.154+2856_154+2857del ENSP00000498033.1:n.154+2856_154+2857del
ENST00000368984.7:c.-88_-87del ENSP00000357980.3:n.-88_-87del
NM_002775.4:c.-88_-87del NP_002766.1:n.-88_-87del
NM_002775.5:c.-88_-87del MANE Select NP_002766.1:n.-88_-87del